ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573058769
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
462318
ClinVar RCV Id:
RCV000567778
RCV000555839
RCV001284420
RCV003999058
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Phe1336Ser
CA6940740
NM_000059.4:c.4007T>C